p.Thr10 Ala13del variant of KDM6A (Lysine-specific demethylase 6A)
p.Thr10 Ala13del in KDM6A (Lysine-specific demethylase 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
p.Thr10 Ala13del variant details
- rs769370817
- gnomAD X-44873574-TCGCTA
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.44
- CADD 20.70
- Most common in the Middle Eastern population (allele frequency 0.00025)
- Structural context available
- Literature evidence available